Disease #01060 (KFSDX (keratosis follicularis spinulosa decalvans, X-linked (KFSDX)), OMIM:308800)

Official abbreviation KFSDX
Name keratosis follicularis spinulosa decalvans, X-linked (KFSDX)
OMIM ID 308800
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 2 genes MBTPS2, SAT1
Associated tissues -
Disease features -
Remarks -


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00116662 23316014-Fam18PatII2 PubMed: Bornholdt 2013 - M ? Sweden - - 0 - - KFSDX At birth dry, itchy skin, photophobia; at age 4 y corneal dots; at age 8 y widespread follicular hyperkeratosis, red cheeks, and thin eyebrows; hair on scalp appears normal; without family history of KFSD MBTPS2 MBTPS2 1 1 Karl-Heinz Grzeschik
00116694 20672378-FamA PubMed: van Osch 1992, PubMed: Oosterwijk 1997, PubMed: Aten 2010 large 8-generation family, 21 male affecteds and 12 carriers M - Netherlands - - 0 - - KFSDX variable phenotype in females correlating with X-inactivation; normal plasma lipid profile; KFSD MBTPS2 MBTPS2 1 33 Emmelien Aten
00116695 20672378-FamB PubMed: Aten 2010 large 4-generation family, 5 male affecteds and 3 carriers M - United States - - 0 - - KFSDX KFSD MBTPS2 MBTPS2 1 8 Emmelien Aten
00116696 20672378-FamC PubMed: Porteous 1998, PubMed: Aten 2010 unrelated families M - United Kingdom (Great Britain) - - 0 - - KFSDX KFSD MBTPS2 MBTPS2 1 1 Emmelien Aten
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